'I haven't hugged my son in years': The rare disease causing people to grow second skeletons

• Video report by ITV Granada Reports journalist, Lauren Ostridge.

The mother of a man diagnosed with a rare genetic condition, which causes a second skeleton to grow inside the body, says she has 'not been able to hug her son in years'.

Fibrodysplasia Ossificans Progressiva (FOP), which affects one in every two million people or 60-80 people in the UK, gradually imprisons people from the inside.

A bump, fall or even a common cold could cause a flare-up, which then triggers new bone growth - and the consequences can be catastrophic.

It could mean that one day a person may be able to turn their head or move their arms, while the next they could become frozen forever in a locked position.

There is no cure or treatment for the extremely painful condition, which is often misdiagnosed as cancer.

Avi, 21, describes how the ultra-rare disease has impacted his life.

Avi Sanghera, who lives in Ellsmere Port, in Cheshire, was diagnosed with FOP at the age of four after developing a lump on his back.

His mother, Rashmita Sanghera, said she "went into shock" when doctors told her the diagnosis and "everything changed" from that moment on.

Avi was unable to take part in normal activities, like P.E. in primary and high school as well as trips to the theme parks, in case it triggered new bone growth.

Over the past year, the 21-year-old artist has lost all movement in his dominant hand, which has forced him to learn how to write with his left hand.

His most recent flare-up occurred in his abdomen, which is slowly beginning to restrict his ability to breathe comfortably as new bone grows around his chest cavity.

"I can't even hug my own son", says mother of 21-year-old diagnosed with rare bone disease FOP.

Pointing to his rib cage and stomach, Avi said: "It covered all of that in bone, so now, I can’t expand my chest when I breathe.  I don’t think I can go through this again and again."

Due to his fragile condition, Rashmita says she has been unable to hug her son in years and cannot comfort him when he is upset.

"He can feel himself turning to bone and it is very painful and there is nothing he can do about it", she explained.

“I haven’t been able to hug my son for years. I can’t hug him and that hurts. He is losing his life. It's stopped.”

What are the main symptoms of FOP?

People with FOP appear normal at birth, except for the tell-tale malformed, turned-in big toes or sometimes thumbs.

The toes/thumbs, combined with unexplained swellings on the body, can be an indicator of the genetic disease.

The swellings are known as flare-ups and are painful lumps that can appear anywhere red and inflamed on the body. 

They can last from a few weeks to a few months and can be excruciatingly painful for the patient. 

A flare-up can appear spontaneously or after an incident. As the flare-up subsides, new bone growth may have occurred.

"When I look at younger ones, I wish I could take it away from them."

Rachel Winnard, 37, who lives in Rochdale, was misdiagnosed with a rare form of cancer as a child and underwent intensive treatment while she was still in primary school.

When Rachel turned 12, she saw a doctor who took one look at her toes, where her big toe is shorter than the rest, and was able to diagnose her with FOP.

"I banged my back on the swing and I was on chemotherapy and radiotherapy", she said.

"But then doctor asked if he could look at my feet and that’s when he diagnosed me."

Rachel has full-time carers that she has "fought for" as she us unable to leave the house or even go to the bathroom without support.

The 37-year-old broke her knee cap and femur in recent weeks just by getting out of her wheelchair unaided, which triggered a catastrophic flare up.

She said: “My leg locked three years ago and it won’t bend now. I’ve got an electric wheelchair to get me about now. It has impacted me quite a lot."

Rachel encourages anyone struggling with an FOP diagnosis to speak to reach out because the condition can be extremely isolating.

"When I look at younger ones that are quite bad I just wish I could take it away from them", she said.

"It's progressive, unpredictable and variable" - Helen Bedford-Gay's son lives with FOP, which is why she set up the charity FOP Friends.

Helen Bedford-Gay and her husband, who are from Sale in south Manchester, set up the first UK charity for FOP after their son, Oliver, was diagnosed as a child.

A junior doctor recognised symptoms of the genetic condition, including a lump that had quickly grown and curved toes.

The 14-year-old can still move around freely and lives a relatively normal life as a teenager in high school. But, according to Helen, it is just a waiting game.

“I think that adds to the cruelness of the disease. It's progressive, unpredictable and variable", Helen explains.

"You don't know when it's going to strike and, when it does strike, you don't know how long those flare-ups are going to last.

"Living every day not knowing when you wake up if your child is going to have an unexplained lump or swelling on their body that’s going to change their life, forever."

Oliver says he has met a people from America who also live with FOP through the charity his mum set up in the UK.

Her charity, FOP Friends, aims to further research into the extremely rare condition by supporting current and future research projects.

It also offers support to the dozens of people - and their families - affected by FOP.

Helen said: "We provide support in the community so that people who are dealing with that don't have to be alone if they don’t want to be.”

Speaking about the work FOP Friends does, Oliver said: “We’ve made quite a few friends all over the world with it and we go to America quite a bit.

"We sometimes see them over there and talk about stuff that you wouldn’t normally want to talk about with your real friends who are just regular.”

Helen's son, Harry, describes his mum as "quite amazing".

Professor Zulf Mughal, a specialist in paediatric bone disease at the Royal Manchester Children's Hospital, says he has only treated six FOP patients in his 40-year career.

He says the true prevalence of the disease is unknown, but it is estimated to be around one patients per two million people worldwide.

Professor Mughal explains: "Early diagnosis is important because you need to protect these infants from triggers, which bring on what is known as flare-ups.

"Flares-ups are the start of the condition which leads to bone formation growing within the body."

• Professor Mughal, a specialist in bone diseases in children, says diagnosis at a young age is key.

He continued to say: “There are a number of drugs developed to try and block this abnormal bone formation and some of these drugs are undergoing clinical trials.

"In the future we hope that there will be treatment."

With more people diagnosed with the ultra-rare condition all over the world, Helen is now pushing for the UK government to fund more research into FOP in hope of one day finding a cure.

For more information and support for those affected by FOP, visit the FOP Friends website.

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